Autism Inpatient Collection: Increasing Research Access to the Severely Affected Autism Population Through a Deeply Characterized Recontactable Cohort

Individuals severely affected by an autism spectrum disorder (ASD), especially those with intellectual disability (ID), significant language impairments, and/or self-injurious behavior, have been under-studied, primarily due to the challenge of participating in outpatient research studies for these individuals and families. As many as 50% of children with ASD fail to develop functional language, 30-50% have intellectual disability, and up to 55% have a lifetime incidence of self-injurious behavior.

The Autism and Developmental Disorders Inpatient Research Collaborative (ADDIRC) was founded in 2013 to develop a unique and singular research platform for advancing genetic and clinical research with patients with severe forms of ASD, called the Autism Inpatient Collection (AIC). The project team, including clinical and research scientists from each ADDIRC site, has expertise in the assessment of severe ASD, the collection and analysis of phenotypic and genetic data and the administration of multi-site collaborative research.

The collection contains substantial phenotypic and descriptive information including demographic data, language, developmental, and intellectual profiles, medical and psychiatric co-morbidities, family psychiatric history, caregiver stress, and extensive behavioral data with special focus on aggression, self-injury, and emotion dysregulation. In addition to developing this resource, the AIC investigators have contributed substantial scientific work to the field.

The researchers have shown that greater ASD severity, sleep disturbance, and psychiatric disorders are risk factors for psychiatric hospitalization; verbal youth are more likely to experience depression and oppositional symptoms; lower adaptive/coping skills are associated with increased problem behaviors independent of language or IQ; lower non-verbal IQ is a significant risk factor for self-injurious behavior; PTSD and suicidality occur at relatively high rates; and significant reductions in externalizing behaviors can be achieved through inpatient treatment.

The team has also participated in the development of a standardized and normed measure of emotion regulation (ER) called the Emotion Dysregulation Inventory (EDI) validated across the full ASD spectrum, and in use on over six continents, 30+ countries, and 28 US states. The team demonstrated that ER impairments are substantially elevated in ASD compared to the typically developing population, found that aggression is commonly associated with ER impairment, but self-injury less so, and that individuals with lower adaptive functioning and minimally verbal individuals display greater emotional reactivity and less recovery from emotion dysregulation. The visibility of the AIC and its products has also had a collateral beneficial impact on clinical services for severely affected youth with ASD.

This three-year project is focused on increasing the size of this collection and multiplying its impact by developing this well characterized group into a live research cohort who can be recruited into new studies by external investigators, who will benefit from the large existing body of data already obtained. The team will continue to create, curate and release successively larger phenotypic datasets to the broader scientific community annually through SFARIBase, and will coordinate the sequencing of the remaining biosamples to make the sequencing data also available to the scientific community. Utilizing the SPARK infrastructure, a critical goal will be to facilitate a streamlined process for AIC youth and families to enroll in SPARK AIC, serving as an identified subcommunity to support their engagement in research recruitment by other investigators. The work will focus on enrolling and retaining a cohort of youth severely affected by ASD into a recontactable research registry to help further accelerate autism research.